ClinVar Miner

Submissions for variant NM_015046.7(SETX):c.2591C>T (p.Pro864Leu)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002632119 SCV002978522 benign Amyotrophic lateral sclerosis type 4; Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 2023-03-05 criteria provided, single submitter clinical testing
GeneDx RCV003156390 SCV003845361 uncertain significance not provided 2022-09-27 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge

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